ClinVar Miner

Submissions for variant NM_183065.4(TMEM107):c.*751C>T

dbSNP: rs117595965
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092408 SCV001248912 pathogenic not provided 2024-04-01 criteria provided, single submitter clinical testing SNORD118: PM3:Very Strong, PM2:Supporting, PS3:Supporting
Mendelics RCV002249682 SCV002516703 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898085 SCV004711594 likely benign TMEM107-related disorder 2023-12-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine RCV001194476 SCV001364101 pathogenic Leukoencephalopathy with calcifications and cysts 2020-04-06 no assertion criteria provided clinical testing

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